Details of Disease | DrugMAP

General Information of Disease (ID: DISGRT1R)

Disease Name	Epiphyseal dysplasia, multiple, 2
Synonyms	epiphyseal dysplasia multiple 2; EDM2; multiple epiphyseal dysplasia 2; multiple epiphyseal dysplasia (disease) caused by mutation in COL9A2; epiphyseal dysplasia, multiple, 2; epiphyseal dysplasia, multiple, type 2; COL9A2 multiple epiphyseal dysplasia (disease)
Definition	Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A2 gene.
Disease Hierarchy	DISH640Y: Multiple epiphyseal dysplasia due to collagen 9 anomaly DIS5FZLR: Multiple epiphyseal dysplasia DISGRT1R: Epiphyseal dysplasia, multiple, 2
Disease Identifiers	MONDO ID MONDO_0010844 MESH ID C535502 UMLS CUI C1838429 OMIM ID 600204 MedGen ID 333092

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COL9A2	OT1ZBDBV	Definitive	Autosomal dominant	[1]
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References

1	Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia. Am J Hum Genet. 1999 Jul;65(1):31-8. doi: 10.1086/302440.